You've probably heard about the genes, BRCA 1 and 2 - most
likely when Angelina Jolie's double mastectomy hit the headlines in
May this year - or maybe more generally, in relation to risk of
breast or ovarian cancer in women. Perhaps you've also heard about
BRCA 1 and 2 in relation to prostate cancer, and the
world's first preventative prostatectomy that wasn't?
But what are the BRCA genes? Why is it such a problem when they
change or 'mutate'? And, what does a BRCA gene mutation mean for
What are the BRCA genes?
BRCA1 and BRCA2 help stop cells becoming cancerous by producing
proteins that fix damage to our DNA. All of the cells in our body
undergo a daily cycle of DNA damage and repair. In a normal day,
the DNA in each cell can be damaged between 1,000 and 1,000,000
times! Luckily, we've evolved very efficient ways to either repair
the DNA, or destroy the 'broken' cells.
The BRCA genes are an important part of this repair process, so
any faults reduce our ability to repair this daily onslaught of DNA
damage. This means that mistakes can start to build up in the DNA,
which increases the chances of the cell becoming cancerous.
If the BRCA genes are 'breast cancer genes', do BRCA mutations
only affect women?
No. Both men and women can inherit a 'faulty' BRCA1 or 2 gene
from either their mother or father.
In women, having a mutation in either BRCA1 or BRCA2 is linked
to an increased risk of developing breast or ovarian cancer, and a
BRCA2 mutation is thought to confer the bigger risk. Men with BRCA1
or 2 mutations are also at increased risk of developing male breast
cancer, although this is still much lower than for women and very
Do BRCA 1 and BRCA2 mutations cause prostate cancer?
We don't yet know of any one gene, or group of genes, that can
identify all men with, or at high risk of, prostate cancer - this
is one of the major goals Prostate Cancer UK is working
There are a number of locations within the DNA that increase a
man's risk of developing prostate cancer when they contain mistakes
(known as genetic variants).
We know that some of these 'risk' locations are within the BRCA1
and 2 genes. However, mutations in BRCA1 and 2 are only found
in 0.44% and 1.2% prostate cancer cases respectively. So, while the
risk of prostate cancer is increased for men with these mutations,
the majority of prostate cancer cases are not linked to BRCA1 or
If I have a BRCA1 or 2 mutation, will I get prostate
Having a BRCA1 or BRCA2 mutation does give you an increased risk
of getting prostate cancer but it doesn't mean you will definitely
You have two copies of every gene, so if you have a BRCA1 or 2
mutation, it means that one copy of the gene is faulty, but the
other one still works perfectly. In this case, enough protein
is produced by the 'perfect' copy of the gene for everything to
function as normal. However, if anything happens to the working
copy of the gene, that's when DNA damage repair would be
One study suggests that a man with a BRCA1 mutation is 3.4 times
more likely to develop prostate cancer by age 65 than a man without
this mutation. This is 8.6 times more likely for a man with a BRCA2
If I have a BRCA1 or 2 mutation, should I have regular PSA
You can read about the pros and cons of the PSA test on our website.
The IMPACT clinical trial is
happening at the moment, and is investigating whether using the PSA
test to screen for prostate cancer would be good for men with a
BRCA1 or 2 mutation. It's also testing how BRCA mutations affect
the predicted outcome of a man's prostate cancer. The results of
this trial are expected in 2017. Early results suggest that regular
PSA testing may be beneficial for men with BRCA mutations, but we
will need to wait for the final results before we can say for
Is there any evidence that BRCA1 or 2 mutations affect prostate
A recent study
looked at the effect of BRCA1 and 2 mutations on prostate cancer
prognosis (the predicted outcome of the disease). This study looked
at men with prostate cancer, and compared those with a BRCA1 or 2
mutation and those without. The scientists found that prostate
cancer in men with a BRCA1 or 2 mutation was more likely to be
aggressive and to spread beyond the prostate.
The researchers suggest that this could mean that men who are
known to have a BRCA1 or 2 mutation when they are diagnosed with
prostate cancer should be treated as high-risk patients
immediately. However, before they can confirm these results and
make a more definite recommendation, they need to wait for results
of the IMPACT
Can I be tested for BRCA 1 and 2 mutations?
Men with a strong family history of breast, ovarian or prostate
cancer, or who have a family member with a BRCA mutation can be
referred for genetic testing on the NHS, but this isn't available
everywhere in the UK. There are also private clinics that don't
require a GP referral.
Genetic testing should always be accompanied by specialist
counselling to help you understand the possible outcomes of the
test, what the results will mean for you and your family, and how
you will cope with the information the test reveals.
At the moment there's not enough evidence to say whether or not
being tested for BRCA1 or 2 mutations should be done, even in men
with a family history of cancer. If you have a family history of
cancer and are concerned about your cancer risk, you can discuss
this with your GP.
Read more about risk and